Detalhe da pesquisa
1.
FOXG1 is responsible for the congenital variant of Rett syndrome.
Am J Hum Genet
; 83(1): 89-93, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18571142
2.
Investigation of modifier genes within copy number variations in Rett syndrome.
J Hum Genet
; 56(7): 508-15, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593744
3.
A case report: bone marrow mesenchymal stem cells from a Rett syndrome patient are prone to senescence and show a lower degree of apoptosis.
J Cell Biochem
; 103(6): 1877-85, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18059018
4.
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
Am J Med Genet A
; 146A(9): 1195-9, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18348270
5.
Italian Rett database and biobank.
Hum Mutat
; 28(4): 329-35, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186495
6.
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Am J Med Genet A
; 143A(23): 2775-84, 2007 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17968969
7.
Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Biochim Biophys Acta
; 1587(1): 45-52, 2002 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-12009423
8.
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
Hum Mutat
; 24(2): 172-7, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15241799
9.
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Eur J Hum Genet
; 12(8): 682-5, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15069458
10.
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.
Mol Biol Cell
; 23(8): 1435-45, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357617
11.
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
Am J Med Genet A
; 143A(8): 858-65, 2007 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17352388
12.
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
Am J Med Genet A
; 135(1): 99-102, 2005 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15809997
13.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Hum Mol Genet
; 14(14): 1935-46, 2005 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15917271
14.
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Am J Med Genet B Neuropsychiatr Genet
; 119B(1): 102-7, 2003 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707946